Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome
Tóm tắt
Tài liệu tham khảo
Drazer, 2018, Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies, Blood Adv, 2, 146, 10.1182/bloodadvances.2017013037
Furutani, 2017, Germline genetic predisposition to hematologic malignancy, J Clin Oncol, 35, 1018, 10.1200/JCO.2016.70.8644
Carraway, 2020, Myeloid neoplasms with germline predisposition: practical considerations and complications in the search for new susceptibility loci, Best Pract Res Clin Haematol, 33, 101191, 10.1016/j.beha.2020.101191
Tawana, 2018, Universal genetic testing for inherited susceptibility in children and adults with myelodysplastic syndrome and acute myeloid leukemia: are we there yet?, Leukemia, 32, 1482, 10.1038/s41375-018-0051-y
Godley, 2016, How I diagnose and manage individuals at risk for inherited myeloid malignancies, Blood, 128, 1800, 10.1182/blood-2016-05-670240
Mujahed, 2017, Bone marrow stroma cells derived from mononuclear cells at diagnosis as a source of germline control DNA for determination of somatic mutations in acute myeloid leukemia, Blood Cancer J, 7, e616-12, 10.1038/bcj.2017.93
Kraft, 2020, Identifying potential germline variants from sequencing hematopoietic malignancies, Blood, 2020, 219
Roloff, 2023, Stagnation in quality of next-generation sequencing assays for the diagnosis of hereditary hematopoietic malignancies, J Genet Couns, 32, 744, 10.1002/jgc4.1672
Ley, 2013, Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia, N Engl J Med, 368, 2059, 10.1056/NEJMoa1301689
Papaemmanuil, 2016, Genomic classification and prognosis in acute myeloid leukemia, N Engl J Med, 374, 2209, 10.1056/NEJMoa1516192
Arber, 2022, International Consensus classification of myeloid neoplasms and acute leukemia: integrating morphological, clinical, and genomic data, Blood, 140, 1200, 10.1182/blood.2022015850
Khoury, 2022, The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms, Leukemia, 36, 1703, 10.1038/s41375-022-01613-1
Arber, 2016, The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia, Blood, 127, 2391, 10.1182/blood-2016-03-643544
Yang, 2022, Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML, Blood, 139, 1208, 10.1182/blood.2021011354
Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30
Li, 2017, Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists, J Mol Diagn, 19, 4, 10.1016/j.jmoldx.2016.10.002
Grimwade, 2010, Refinement of cytogenetic classification in acute myeloid leukemia: determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials, Blood, 116, 354, 10.1182/blood-2009-11-254441
Döhner, 2022, Diagnosis and management of AML in adults: 2022 ELN recommendations from an International Expert Panel, Blood, 140, 1345, 10.1182/blood.2022016867
Feliubadaló, 2021, A collaborative effort to define classification criteria for ATM variants in hereditary cancer patients, Clin Chem, 67, 518, 10.1093/clinchem/hvaa250
Tyner, 2018, Functional genomic landscape of acute myeloid leukaemia, Nature, 562, 526, 10.1038/s41586-018-0623-z
Welch, 2016, TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes, N Engl J Med, 24, 2023, 10.1056/NEJMoa1605949
Sébert, 2019, Germline DDX41 mutations define a significant entity within adult MDS/AML patients, Blood, 134, 1441, 10.1182/blood.2019000909
Vargas-Parra, 2020, Comprehensive analysis and ACMG - based classification of CHEK2 variants in hereditary cancer patients, Hum Mutat, 41, 2128, 10.1002/humu.24110
Huang, 2018, Pathogenic germline variants in 10,389 adult cancers, Cell, 173, 355, 10.1016/j.cell.2018.03.039
Kim, 2020, Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia, Sci Rep, 10, 14297, 10.1038/s41598-020-71386-z
Feurstein, 2022, Germ line predisposition variants occur in myelodysplastic syndrome patients of all ages, Blood, 140, 2533, 10.1182/blood.2022015790
DeRoin, 2022, Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders, Hum Mutat, 43, 950, 10.1002/humu.24374
Wong, 2016, Rapid expansion of preexisting nonleukemic hematopoietic clones frequently follows induction therapy for de novo AML, Blood, 127, 893, 10.1182/blood-2015-10-677021
Hasserjian, 2020, Clonal hematopoiesis and measurable residual disease assessment in acute myeloid leukemia, Blood, 135, 1729, 10.1182/blood.2019004770
Tanaka, 2021, Clonal dynamics and clinical implications of postremission clonal hematopoiesis in acute myeloid leukemia, Blood, 138, 1733, 10.1182/blood.2020010483
Suarez, 2015, Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the french national registry of primary immune deficiencies, J Clin Oncol, 33, 202, 10.1200/JCO.2014.56.5101
Viniou, 2001, Acute myeloid leukemia in a patient with ataxia-telangiectasia: a case report and review of the literature, Leukemia, 15, 1668, 10.1038/sj.leu.2402210
Lin, 2010, Child with ataxia telangiectasia developing acute myeloid leukemia, J Clin Oncol, 28, 213, 10.1200/JCO.2009.25.5067
Brioli, 2011, Patient with ataxia telangiectasia who developed acute myeloid leukemia, Leuk Lymphoma, 52, 1818, 10.3109/10428194.2011.577256
Onoda, 2013, Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia, Eur J Haematol, 91, 557, 10.1111/ejh.12186
Goldgraben, 2020, Genomic profiling of acute myeloid leukaemia associated with ataxia telangiectasia identifies a complex karyotype with wild-type TP53 and mutant KRAS, G3BP1 and IL7R, Pediatr Blood Cancer, 67, e28354, 10.1002/pbc.28354
Renwick, 2006, ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles, Nat Genet, 38, 873, 10.1038/ng1837
Roberts, 2012, ATM mutations in patients with hereditary pancreatic cancer, Cancer Discov, 2, 41, 10.1158/2159-8290.CD-11-0194
Pritchard, 2016, Inherited DNA-repair gene mutations in men with metastatic prostate cancer, N Engl J Med, 375, 443, 10.1056/NEJMoa1603144
Dalmasso, 2021, Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum Consortia, Genet Med, 23, 2087, 10.1038/s41436-021-01240-8
Roloff, 2021, Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies, Genet Med, 23, 211, 10.1038/s41436-020-0934-y
Aguilera-Diaz, 2020, Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design, PLoS One, 15, e0227986, 10.1371/journal.pone.0227986
Choi, 2016, ATM mutations in cancer: therapeutic implications, Mol Cancer Ther, 15, 1781, 10.1158/1535-7163.MCT-15-0945
Li, 2022, AML with germline DDX41 variants is a clinicopathologically distinct entity with an indolent clinical course and favorable outcome, Leukemia, 36, 664, 10.1038/s41375-021-01404-0
Bick, 2020, Inherited causes of clonal haematopoiesis in 97,691 whole genomes, Nature, 586, 763, 10.1038/s41586-020-2819-2
Stubbins, 2022, Germline CHEK2 and ATM variants in myeloid and other hematopoietic malignancies, Curr Hematol Malig Rep, 17, 94, 10.1007/s11899-022-00663-7
Janiszewska, 2018, Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML, Leuk Res, 70, 74, 10.1016/j.leukres.2018.05.013
Lindsley, 2015, Acute myeloid leukemia ontogeny is defined by distinct somatic mutations, Blood, 125, 1367, 10.1182/blood-2014-11-610543
Klco, 2021, Advances in germline predisposition to acute leukaemias and myeloid neoplasms, Nat Rev Cancer, 21, 122, 10.1038/s41568-020-00315-z
del Valle, 2020, Exploring the role of mutations in Fanconi anemia genes in hereditary cancer patients, Cancers, 12, 829-10, 10.3390/cancers12040829
Aalbers, 2013, Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia, Br J Haematol, 160, 559, 10.1111/bjh.12134
Peterlongo, 2015, FANCM c. 5791C>T nonsense mutation (rs144567652) induces exon skipping , affects DNA repair activity and is a familial breast cancer risk factor, Hum Mol Genet, 24, 5345, 10.1093/hmg/ddv251
Ward, 1999, Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment, J Exp Med, 190, 497, 10.1084/jem.190.4.497
Triot, 2014, Inherited biallelic CSF3R mutations in severe congenital neutropenia, Blood, 123, 3811, 10.1182/blood-2013-11-535419
Klimiankou, 2015, GM-CSF stimulates granulopoiesis in a congenital neutropenia patient with loss-of-function biallelic heterozygous CSF3R mutations, Blood, 126, 1865, 10.1182/blood-2015-07-661264
Skokowa, 2017, Severe congenital neutropenias, Nat Rev Dis Primers, 3, 1, 10.1038/nrdp.2017.32
Lavallée, 2016, Chemo-genomic interrogation of CEBPA mutated AML reveals recurrent CSF3R mutations and subgroup sensitivity to JAK inhibitors, Blood, 127, 3054, 10.1182/blood-2016-03-705053
Zhang, 2018, CSF3R Mutations are frequently associated with abnormalities of RUNX1, CBFB, CEBPA, and NPM1 genes in acute myeloid leukemia, Cancer, 124, 3329, 10.1002/cncr.31586
Wang, 2022, Differential implications of CSF3R mutations in t(8;21) and CEBPA double mutated acute myeloid leukemia, Clin Lymphoma Myeloma Leuk, 22, 393, 10.1016/j.clml.2021.11.013
Trottier, 2020, Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies, Blood Adv, 4, 5269, 10.1182/bloodadvances.2020002013
Senol-cosar, 2019, Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk, Genet Med, 21, 2765, 10.1038/s41436-019-0560-8
Feurstein, 2022, A practical guide to interpreting germline variants that drive hematopoietic malignancies, bone marrow failure, and chronic cytopenias, Genet Med, 24, 931, 10.1016/j.gim.2021.12.008